תוצאות חיפוש - Rastetter, Agnès

Exome Sequencing Reveals Signal Transduction Genes Involved in Impulse Control Disorders in Parkinson's Disease מאת Prud'hon, Sabine, Bekadar, Samir, Rastetter, Agnès, Guégan, Justine, Cormier-Dequaire, Florence, Lacomblez, Lucette, Mangone, Graziella, You, Hana, Daniau, Mailys, Marie, Yannick, Bertrand, Hélène, Lesage, Suzanne, Tezenas Du Montcel, Sophie, Anheim, Mathieu, Brice, Alexis, Danjou, Fabrice, Corvol, Jean-Christophe

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Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders מאת Nava, Caroline, Keren, Boris, Mignot, Cyril, Rastetter, Agnès, Chantot-Bastaraud, Sandra, Faudet, Anne, Fonteneau, Eric, Amiet, Claire, Laurent, Claudine, Jacquette, Aurélia, Whalen, Sandra, Afenjar, Alexandra, Périsse, Didier, Doummar, Diane, Dorison, Nathalie, Leboyer, Marion, Siffroi, Jean-Pierre, Cohen, David, Brice, Alexis, Héron, Delphine, Depienne, Christel

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KIF1A missense mutations in SPG30, an autosomal recessive spastic paraplegia: distinct phenotypes according to the nature of the mutations מאת Klebe, Stephan, Lossos, Alexander, Azzedine, Hamid, Mundwiller, Emeline, Sheffer, Ruth, Gaussen, Marion, Marelli, Cecilia, Nawara, Magdalena, Carpentier, Wassila, Meyer, Vincent, Rastetter, Agnès, Martin, Elodie, Bouteiller, Delphine, Orlando, Laurent, Gyapay, Gabor, El-Hachimi, Khalid H, Zimmerman, Batel, Gamliel, Moriya, Misk, Adel, Lerer, Israela, Brice, Alexis, Durr, Alexandra, Stevanin, Giovanni

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Loss of Function of Glucocerebrosidase GBA2 Is Responsible for Motor Neuron Defects in Hereditary Spastic Paraplegia מאת Martin, Elodie, Schüle, Rebecca, Smets, Katrien, Rastetter, Agnès, Boukhris, Amir, Loureiro, José L., Gonzalez, Michael A., Mundwiller, Emeline, Deconinck, Tine, Wessner, Marc, Jornea, Ludmila, Oteyza, Andrés Caballero, Durr, Alexandra, Martin, Jean-Jacques, Schöls, Ludger, Mhiri, Chokri, Lamari, Foudil, Züchner, Stephan, De Jonghe, Peter, Kabashi, Edor, Brice, Alexis, Stevanin, Giovanni

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DCC mutation update: congenital mirror movements, isolated agenesis of the corpus callosum and developmental split brain syndrome מאת Marsh, Ashley PL, Edwards, Timothy J, Galea, Charles, Cooper, Helen M, Engle, Elizabeth C, Jamuar, Saumya S, Méneret, Aurélie, Moutard, Marie-Laure, Nava, Caroline, Rastetter, Agnès, Robinson, Gail, Rouleau, Guy, Roze, Emmanuel, Spencer-Smith, Megan, Trouillard, Oriane, de Villemeur, Thierry Billette, Walsh, Christopher A, Yu, Timothy W, Heron, Delphine, Sherr, Elliott H, Richards, Linda J, Depienne, Christel, Leventer, Richard J, Lockhart, Paul J

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Mutations in the KIF21B kinesin gene cause neurodevelopmental disorders through imbalanced canonical motor activity מאת Asselin, Laure, Rivera Alvarez, José, Heide, Solveig, Bonnet, Camille S., Tilly, Peggy, Vitet, Hélène, Weber, Chantal, Bacino, Carlos A., Baranaño, Kristin, Chassevent, Anna, Dameron, Amy, Faivre, Laurence, Hanchard, Neil A., Mahida, Sonal, McWalter, Kirsty, Mignot, Cyril, Nava, Caroline, Rastetter, Agnès, Streff, Haley, Thauvin-Robinet, Christel, Weiss, Marjan M., Zapata, Gladys, Zwijnenburg, Petra J. G., Saudou, Frédéric, Depienne, Christel, Golzio, Christelle, Héron, Delphine, Godin, Juliette D.

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Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: A Gradient of Severity in Cognitive Impairments מאת Leblond, Claire S., Nava, Caroline, Polge, Anne, Gauthier, Julie, Huguet, Guillaume, Lumbroso, Serge, Giuliano, Fabienne, Stordeur, Coline, Depienne, Christel, Mouzat, Kevin, Pinto, Dalila, Howe, Jennifer, Lemière, Nathalie, Durand, Christelle M., Guibert, Jessica, Ey, Elodie, Toro, Roberto, Peyre, Hugo, Mathieu, Alexandre, Amsellem, Frédérique, Rastam, Maria, Gillberg, I. Carina, Rappold, Gudrun A., Holt, Richard, Monaco, Anthony P., Maestrini, Elena, Galan, Pilar, Heron, Delphine, Jacquette, Aurélia, Afenjar, Alexandra, Rastetter, Agnès, Brice, Alexis, Devillard, Françoise, Assouline, Brigitte, Laffargue, Fanny, Lespinasse, James, Chiesa, Jean, Rivier, François, Bonneau, Dominique, Regnault, Beatrice, Zelenika, Diana, Delepine, Marc, Lathrop, Mark, Sanlaville, Damien, Schluth-Bolard, Caroline, Edery, Patrick, Perrin, Laurence, Tabet, Anne Claude, Schmeisser, Michael J., Boeckers, Tobias M., Coleman, Mary, Sato, Daisuke, Szatmari, Peter, Scherer, Stephen W., Rouleau, Guy A., Betancur, Catalina, Leboyer, Marion, Gillberg, Christopher, Delorme, Richard, Bourgeron, Thomas

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Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance מאת Marsh, Ashley P L, Heron, Delphine, Edwards, Timothy J, Quartier, Angélique, Galea, Charles, Nava, Caroline, Rastetter, Agnès, Moutard, Marie-Laure, Anderson, Vicki, Bitoun, Pierre, Bunt, Jens, Faudet, Anne, Garel, Catherine, Gillies, Greta, Gobius, Ilan, Guegan, Justine, Heide, Solveig, Keren, Boris, Lesne, Fabien, Lukic, Vesna, Mandelstam, Simone A, McGillivray, George, McIlroy, Alissandra, Méneret, Aurélie, Mignot, Cyril, Morcom, Laura R, Odent, Sylvie, Paolino, Annalisa, Pope, Kate, Riant, Florence, Robinson, Gail A, Spencer-Smith, Megan, Srour, Myriam, Stephenson, Sarah E M, Tankard, Rick, Trouillard, Oriane, Welniarz, Quentin, Wood, Amanda, Brice, Alexis, Rouleau, Guy, Attié-Bitach, Tania, Delatycki, Martin B, Mandel, Jean-Louis, Amor, David J, Roze, Emmanuel, Piton, Amélie, Bahlo, Melanie, de Villemeur, Thierry Billette, Sherr, Elliott H, Leventer, Richard J, Richards, Linda J, Lockhart, Paul J, Depienne, Christel

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Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU מאת Depienne, Christel, Nava, Caroline, Keren, Boris, Heide, Solveig, Rastetter, Agnès, Passemard, Sandrine, Chantot-Bastaraud, Sandra, Moutard, Marie-Laure, Agrawal, Pankaj B., VanNoy, Grace, Stoler, Joan M., Amor, David J., Billette de Villemeur, Thierry, Doummar, Diane, Alby, Caroline, Cormier-Daire, Valérie, Garel, Catherine, Marzin, Pauline, Scheidecker, Sophie, de Saint-Martin, Anne, Hirsch, Edouard, Korff, Christian, Bottani, Armand, Faivre, Laurence, Verloes, Alain, Orzechowski, Christine, Burglen, Lydie, Leheup, Bruno, Roume, Joelle, Andrieux, Joris, Sheth, Frenny, Datar, Chaitanya, Parker, Michael J., Pasquier, Laurent, Odent, Sylvie, Naudion, Sophie, Delrue, Marie-Ange, Le Caignec, Cédric, Vincent, Marie, Isidor, Bertrand, Renaldo, Florence, Stewart, Fiona, Toutain, Annick, Koehler, Udo, Häckl, Birgit, von Stülpnagel, Celina, Kluger, Gerhard, Møller, Rikke S., Pal, Deb, Jonson, Tord, Soller, Maria, Verbeek, Nienke E., van Haelst, Mieke M., de Kovel, Carolien, Koeleman, Bobby, Monroe, Glen, van Haaften, Gijs, Attié-Bitach, Tania, Boutaud, Lucile, Héron, Delphine, Mignot, Cyril

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